Canonical Allele Identifier: CA1060322952

Gene: SEPSECS

Linked Data

• gnomAD v3: 4-25144319-C-A
• gnomAD v4: 4-25144319-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144319C>A , CM000666.2:g.25144319C>A	GRCh38
NC_000004.11:g.25145941C>A , CM000666.1:g.25145941C>A	GRCh37
NC_000004.10:g.24755039C>A	NCBI36
NG_028222.1:g.21264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1026+455G>T MANE Select	ENSP00000371535.2:n.1026+455G>T
ENST00000680581.1:c.1026+455G>T	ENSP00000506483.1:n.1026+455G>T
ENST00000680824.1:n.2242+455G>T
ENST00000681071.1:n.1318+455G>T
ENST00000681341.1:n.2167+455G>T
ENST00000681948.1:c.1281+455G>T	ENSP00000505991.1:n.1281+455G>T
ENST00000358971.7:c.*824+455G>T	ENSP00000351857.3:n.*824+455G>T
ENST00000382103.6:c.1026+455G>T	ENSP00000371535.2:n.1026+455G>T
ENST00000503150.1:c.308+455G>T
ENST00000505513.1:n.326+455G>T
ENST00000514585.5:c.*727+455G>T	ENSP00000421880.1:n.*727+455G>T
NM_016955.3:c.1026+455G>T	NP_058651.3:n.1026+455G>T
XM_005248168.2:c.789+455G>T	XP_005248225.1:n.789+455G>T
XM_006713965.2:c.846+455G>T	XP_006714028.1:n.846+455G>T
XM_011513846.1:c.1023+455G>T	XP_011512148.1:n.1023+455G>T
XM_011513847.1:c.993+455G>T	XP_011512149.1:n.993+455G>T
XM_011513848.1:c.846+455G>T	XP_011512150.1:n.846+455G>T
XM_011513846.2:c.1023+455G>T	XP_011512148.1:n.1023+455G>T
XM_011513847.2:c.993+455G>T	XP_011512149.1:n.993+455G>T
XM_017008277.1:c.1281+455G>T	XP_016863766.1:n.1281+455G>T
XM_017008278.1:c.603+455G>T	XP_016863767.1:n.603+455G>T
NM_016955.4:c.1026+455G>T MANE Select	NP_058651.3:n.1026+455G>T